New Clinical Phenotype in a Child Presenting With an FHL1 Mutation.

Abstract excerpt

There is a range of phenotypes associated with pathogenic variants in the FHL1 gene, including X-linked dominant scapuloperoneal myopathy, X-linked myopathy with postural muscle atrophy, reducing body myopathy, Emery-Dreifuss muscular dystrophy, rigid-spine syndrome, and hypertrophic cardiomyopathy. This gene encodes the four-and-a-half LIM domain protein 1 which is highly expressed in skeletal and cardiac...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Attention Deficit Disorder with Hyperactivity
• Share to Dyslexia
• Share to Exome Sequencing